Linked Data
ClinVar Variation Id:
2449714
ClinVar RCV Id:
RCV003171713
gnomAD v4:
1-15445701-G-A
MyVariant Identifiers:
chr1:g.15772196G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445701G>A , CM000663.2:g.15445701G>A | GRCh38 |
| NC_000001.10:g.15772196G>A , CM000663.1:g.15772196G>A | GRCh37 |
| NC_000001.9:g.15644783G>A | NCBI36 |
| NG_009253.1:g.12259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.744G>A MANE Select | ENSP00000365116.4:p.Lys248= | |
| ENST00000375943.6:c.*198G>A | ENSP00000365110.2:n.*198G>A | |
| ENST00000375949.4:c.744G>A | ENSP00000365116.4:p.Lys248= | |
| ENST00000483406.1:n.508G>A | ||
| NM_007272.2:c.744G>A | NP_009203.2:p.Lys248= | |
| XM_011540550.1:c.598G>A | XP_011538852.1:p.Ala200Thr | |
| NM_007272.3:c.744G>A MANE Select | NP_009203.2:p.Lys248= |